STX11

STX11 is a gene that encodes a member of the syntaxin family. Syntaxins are involved in the docking of synaptic vesicles at the presynaptic membrane. The encoded protein is a key component of the endosomal SNARE complex and may play a role in intracellular trafficking. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 4.

Function

STX11 is a member of the syntaxin family. Syntaxins are proteins that are involved in the docking of synaptic vesicles at the presynaptic membrane. The protein encoded by STX11 is a key component of the endosomal SNARE complex, which is a group of proteins that play a crucial role in intracellular trafficking.

Clinical significance

Mutations in the STX11 gene are associated with familial hemophagocytic lymphohistiocytosis type 4 (FHL4). FHL4 is a rare, life-threatening immune disorder that is usually diagnosed in infancy or early childhood. The disorder is characterized by fever, enlarged liver or spleen, low blood counts, and neurological abnormalities.

See also

• Syntaxin
• Synaptic vesicle
• Presynaptic membrane
• Endosomal SNARE complex
• Intracellular trafficking
• Familial hemophagocytic lymphohistiocytosis

References

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External links

• STX11 at National Center for Biotechnology Information
• STX11 at Genetics Home Reference

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